Difference between revisions of "Maple Syrup Urine Disease 2012"

From Bioinformatikpedia
(Biochemical disease mechanism)
(Biochemical disease mechanism)
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== Biochemical disease mechanism ==
 
== Biochemical disease mechanism ==
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MSUD affects a protein called branched-chain alpha-keto acid dehydrogenase complex (BCKDHC), which is involved in the degradation of branched amino acids (Val, Leu, Ile). BCKDHC consists of four subunits:
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BCKDHA
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BCKDHB
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DBT
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DLT
 
[[File:Kegg-pathway-marked.jpg]]
 
[[File:Kegg-pathway-marked.jpg]]
   

Revision as of 12:23, 20 April 2012

Summary

place summary in here

Phenotype

Biochemical disease mechanism

MSUD affects a protein called branched-chain alpha-keto acid dehydrogenase complex (BCKDHC), which is involved in the degradation of branched amino acids (Val, Leu, Ile). BCKDHC consists of four subunits: BCKDHA BCKDHB DBT DLT Kegg-pathway-marked.jpg

Mutations